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Dent Disease with mutations in OCRL1.
Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. Hoopes RR Jr, et al. Among authors: shrimpton ae. Am J Hum Genet. 2005 Feb;76(2):260-7. doi: 10.1086/427887. Epub 2004 Dec 30. Am J Hum Genet. 2005. PMID: 15627218 Free PMC article.
A new HLA-A1 mutation: a novel, null variant allele.
Henry JB, Hubbell CA, Davis MC, Fernandez-Vina MA, Yunis EJ, Shrimpton AE. Henry JB, et al. Among authors: shrimpton ae. Am J Clin Pathol. 2004 Aug;122(2):185-92. doi: 10.1309/8DE1-2YU6-5BKH-HQW6. Am J Clin Pathol. 2004. PMID: 15323134
60 results